European Journal of Pediatrics最新文献

{"title":"Early evolution of lung aeration by ultrasonography in very low birth weight infants.","authors":"Almudena Alonso-Ojembarrena, Victor Moreno-Vargas, Irene Gutierrez-Rosa, Antonio Segado-Arenas, Alexandra Floriana Nemes","doi":"10.1007/s00431-025-06366-4","DOIUrl":"https://doi.org/10.1007/s00431-025-06366-4","url":null,"abstract":"<p><p>An increase in FiO₂ requirements at 2 weeks is related to worse respiratory prognosis in very low birth weight infants (VLBWI). We aimed to analyze the evolution in lung ultrasound (LUS) score of infants with or without this deterioration. We categorized 104 neonates born before 30 weeks' gestational age (GA) according to their initial FiO₂ progression into three groups and performed LUS at birth, at 3 days, at 1 and 2 weeks of life. The infants with low FiO2 in the first days of life (groups 1 and 2) showed low LUS score at birth, but those VLBWI with an increase in FiO2 at 2 weeks (group 2) showed an increase in LUS score since 3 days, to values similar to those with higher FiO2 since birth (group 3). This increase remained significant after adjusting for GA at day 7.</p><p><strong>Conclusion: </strong>LUS score is able to detect respiratory deterioration earlier than FiO2 in VLBWI.</p><p><strong>What is known: </strong>• Very low birth weight infants that suffer a deterioration in their respiratory status at 2 weeks of life have worse respiratory outcomes.</p><p><strong>What is new: </strong>• Before these infants face an increase in FiO2, there is an increase in lung ultrasound score at the first week of life.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"521"},"PeriodicalIF":2.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Not just about the pump\"-providing sexual and reproductive health information to adolescents with heart disease.","authors":"Annika Bay, Harpa Vidarsdottir, Elisabeth Jangsten, Åsa Burström","doi":"10.1007/s00431-025-06357-5","DOIUrl":"10.1007/s00431-025-06357-5","url":null,"abstract":"<p><p>More adolescents with congenital heart disease (CHD) are reaching adulthood and reproductive age. They face challenges transitioning from pediatric to adult health care and need to manage their health and developmental goals. The 2030 Agenda emphasizes a holistic approach to sexual and reproductive health rights (SRHR), aiming to provide accessible information to adolescents. Healthcare providers (HCPs) must offer appropriate information about CHD and SRHR issues. This study aimed to describe HCPs' experiences of informing adolescents with heart disease about SRH. An explorative study with a descriptive design using semi-structured interviews. The qualitative content analysis method by Graneheim and Lundman was used to analyze the data. The interviews provided a wealth of data, revealing different opinions and experiences. The analysis resulted in four main categories: (1) organizational culture, (2) health care professionals' perception of adolescents' needs, (3) skills and ability are essential, and (4) parents' influence on conversationConclusion: Discussing SRH is universally accepted among HCPs, but prioritization varies. HCPs must customize information, consider the timing and setting of the conversation. Enhanced knowledge and skills in SRH are essential, including strategies to overcome barriers and respectfully involve parents. Crucially, adolescents' rights to SRH information must always be upheld. What is Known: • There are challenges in the transition from pediatric to adult care in managing adolescents' health and developmental goals. Health professionals need to provide appropriate information to adolescents about their sexual and reproductive health. What is New: • This information needs to be tailored to the time and setting of the counselling session. Health professionals need to know more about how to provide this information and are looking for more knowledge on the subject.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"520"},"PeriodicalIF":2.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12316719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal changes in skeletal muscle in children undergoing cancer treatment: a systematic review and meta-analysis.","authors":"Anna Maria Markarian, Dennis R Taaffe, Daniel A Galvão, Carolyn J Peddle-McIntyre, Jodie Cochrane Wilkie, Francesco Bettariga, Robert U Newton","doi":"10.1007/s00431-025-06349-5","DOIUrl":"10.1007/s00431-025-06349-5","url":null,"abstract":"<p><p>Skeletal muscle loss during chemotherapy has been associated with poorer outcomes and reduced survival across several types of cancer. However, the extent and progression of muscle loss during treatment for childhood cancers remain unclear. A better understanding could help identify children at increased risk and inform the timing of targeted intervention. This systematic review and meta-analysis aimed to synthesize the evidence on skeletal muscle changes during treatment for childhood cancers and identify factors that influence these outcomes. A systematic search was conducted in CINAHL, Embase, PubMed, SPORTDiscus, and Web of Science. Studies were eligible if they included children and adolescents (< 19 years) undergoing cancer treatment and reported muscle quantity at a minimum of two time points. The methodological quality of the included studies was evaluated using the Newcastle-Ottawa Scale. Twenty studies (n = 646; age range: 2.5-14.7 years) were included. A significant decline in muscle quantity was observed during the early phase of treatment (standardized mean difference (SMD): SMD =  - 0.36; 95% CI: - 0.59 to - 0.13; p < 0.05). At later follow-up time points, the overall change was not statistically significant (SMD =  - 0.08; 95% CI: - 0.27 to 0.10; p = 0.36). However, estimates of muscle quantity varied significantly by assessment modality (p = 0.048).</p><p><strong>Conclusion: </strong>Children with cancer experience significant skeletal muscle loss during the intensive phase of treatment. While decrements observed at later time points appear modest, reported outcomes vary considerably depending on the assessment method. Standardized, reliable body composition measures are needed to detect meaningful changes and guide clinical care.</p><p><strong>What is known: </strong>• Skeletal muscle loss during adult cancer treatment is linked to poor outcomes, yet pediatric data are limited and inconsistent.</p><p><strong>What is new: </strong>• This is the first systematic review and meta-analysis showing significant early-phase skeletal muscle loss in children undergoing cancer treatment, accompanied by concurrent increases in fat mass. • Considerable variability in skeletal muscle estimates across different body composition assessment methods underscores the need for reliable and sensitive measurement techniques to monitor changes accurately and guide clinical care.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"513"},"PeriodicalIF":2.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How to select the correct patients for home phototherapy of neonatal hyperbilirubinaemia-a retrospective population-based implementation study.","authors":"Miriam Pettersson, Cecilia Lai, Andreas Ohlin","doi":"10.1007/s00431-025-06353-9","DOIUrl":"10.1007/s00431-025-06353-9","url":null,"abstract":"<p><p>To examine how many patients received home phototherapy and describe the major reasons for admission to hospital for phototherapy. The study was performed as a retrospective population-based observational study. All newborns at Örebro University Hospital born in October 2019-March 2023 ≥ gestational week 36 + 0 and having performed phototherapy were included. The primary outcome was the proportion of newborns receiving hospital vs home phototherapy. Secondary outcomes were the reasons for not performing home phototherapy. Further secondary outcomes were the number of readmissions (failed home treatments) and the number of infants with bilirubin > 425 µmol/L. In total, 492 patients were included. Of these, 256 (52%) received home phototherapy (180 exclusively, and 76 for part of the treatment); 236 (48%) received phototherapy exclusively in hospital. Among the 302 (236 + 66) patients in whom home phototherapy was not primarily performed, the most common reasons were haemolytic disease (35%) and the need for the use of multiple phototherapy devices (26%). In total, 14% received hospital phototherapy for various other reasons, such as concerns regarding breastfeeding or poor weight gain of the baby.</p><p><strong>Conclusion: </strong>In this retrospective study, we found that approximately 50% of full-term infants with neonatal hyperbilirubinaemia were suitable for home phototherapy. The most common reasons for not receiving home phototherapy in our population were haemolytic disease and severe hyperbilirubinaemia. These results indicate what may be expected when planning to start a home phototherapy programme.</p><p><strong>What is known: </strong>• Phototherapy at home is considered a safe alternative to hospital treatment for well-selected patients, but the proportion of suitable patients has not been studied.</p><p><strong>What is new: </strong>• This study shows that approximately 50% of all full-term newborns with hyperbilirubinaemia can safely be treated at home. • The most common contraindications to home phototherapy are haemolytic disease and need for intensive phototherapy.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"515"},"PeriodicalIF":2.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Colchicine efficacy on oral ulcers caused by Behçet's spectrum disorders including idiopathic recurrent aphthous stomatitis, PFAPA, and Behçet's Disease.","authors":"Zelal Aydin, Feray Kaya, Elif Kucuk, Lutfiye Koru, Eda Nur Dizman, Hatice Kubra Dursun, Merve Ozen Balci, Fatih Haslak, Kubra Ozturk","doi":"10.1007/s00431-025-06363-7","DOIUrl":"https://doi.org/10.1007/s00431-025-06363-7","url":null,"abstract":"<p><p>Recurrent aphthous stomatitis (RAS) is a common condition in pediatric age. Since there are significant genetic commonalities among idiopathic cases, periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA), and Behçet's disease (BD), they were proposed to be considered in one clinical spectrum termed Behçet's Spectrum Disorders (BSDs). This retrospective study aimed to evaluate the efficacy of colchicine on oral ulcers in children with BSD related RAS (BSD-RAS). Secondary aim was to compare the disease groups in terms of clinical and laboratory benefits. Data at admission and one year-after the treatment initiation were compared. A total of 317 patients with RAS were evaluated, and 186 patients classified as BSD-RAS (Female: n = 105, 56%). The median age at symptom onset was 5 (0.5-16.5) years. Colchicine was started to 142 (76%) patients. We observed a significant reduction in the frequency and duration of oral ulcers, as well as in the visual analogue scale (VAS) scores reported by patients/families and physicians, and the erythrocyte sedimentation rate during symptom-free periods across all three groups. In patients with PFAPA, both difference between initial and final recorded values (Δ) patient/families and Δ physician VAS scores were significantly higher than in other groups (p < 0.001). Furthermore, both Δ duration (p = 0.005) and Δ frequency of oral aphthae (p = 0.012) were significantly higher in idiopathic cases than those with PFAPA.</p><p><strong>Conclusion: </strong>These findings demonstrate a substantial reduction in both clinical symptoms and laboratory markers following colchicine treatment, supporting its effectiveness as a therapeutic option for BSD-RAS.</p><p><strong>What is known: </strong>•Recurrent aphthous stomatitis, PFAPA, and Behçet's disease may manifest with similar oral ulcers in pediatric patients. •Colchicine is frequently used in this clinical spectrum known as Behçet's Spectrum Disorders, although there is a scarcity of pediatric data.</p><p><strong>What is new: </strong>•Colchicine treatment significantly improved clinical and laboratory outcomes across all groups. •Idiopathic group had greater reductions in oral ulcer frequency and duration while PFAPA associated cases showed highest improvement in visual analogue scale scores.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"516"},"PeriodicalIF":2.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychometric validation of the 5-item parent attitudes about childhood vaccines survey (PACV-5) in an Italian parental population.","authors":"Camilla Elena Magi, Khadija El Aoufy, Stefano Bambi, Alessia Campoli, Yari Longobucco, Emanuele Buccione, Carla Amato, Antonio Bonacaro, Laura Rasero, Paolo Iovino","doi":"10.1007/s00431-025-06342-y","DOIUrl":"https://doi.org/10.1007/s00431-025-06342-y","url":null,"abstract":"<p><p>To evaluate the psychometric properties of the Italian version of the Parent Attitudes about Childhood Vaccines Survey (PACV-5), a total of 308 parents/legal guardians of children aged 0-18 years completed an anonymous online survey (EUSurvey®). Structural validity was assessed using confirmatory factor analysis (CFA). Convergent validity was assessed by correlating PACV-5 scores with health literacy and vaccine confidence measures. Measurement invariance across education levels was tested using the multiple indicators multiple causes (MIMIC) approach. Reliability was evaluated with Cronbach's α and Omega coefficient (ω). Precision was assessed through the standard error of measurement (SEM) and smallest detectable change (SDC). The PACV-5 total score (M = 2.00, SD = 2.36) reflected low vaccine hesitancy. CFA supported a unidimensional structure with good fit indices (RMSEA = 0.057, CFI = 0.99). Convergent validity was confirmed by significant negative correlations between PACV-5 and health literacy (r =  - 0.32 and r =  - 0.25, p < 0.001, respectively), the Vaccine Confidence Index (r =  - 0.60, p < 0.001), and the Adult Vaccine Hesitancy Scale (r =-0.53, p < 0.001). Measurement invariance was confirmed across education levels (less than university degree vs university degree or above). Reliability testing revealed strong internal consistency (ω = 0.81, α = 0.80) and adequate precision (SEM = 1.06, SDC = 2.85).Conclusion: The Italian version of PACV-5 demonstrates robust reliability, validity, measurement invariance, and precision for use in public health contexts. Future research should also assess criterion validity and responsiveness to interventions to enhance vaccine confidence and uptake.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"514"},"PeriodicalIF":2.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor regarding: \"Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study\".","authors":"Shafi Ullah","doi":"10.1007/s00431-025-06356-6","DOIUrl":"https://doi.org/10.1007/s00431-025-06356-6","url":null,"abstract":"","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"517"},"PeriodicalIF":2.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gut microbiome differences after vaginal birth in relation to rupture of membranes at term: a prospective longitudinal cohort study of twins.","authors":"Marcos Javier Cuerva, Irene Bartha, Esperanza Escribano, Guillermo Chueca, Marta Perez de Aguado, Irene Espinosa-Martos, Sergio Esteban, Maria De La Calle, Esther Jimenez, Jose Luis Bartha","doi":"10.1007/s00431-025-06336-w","DOIUrl":"10.1007/s00431-025-06336-w","url":null,"abstract":"<p><p>The purpose of this study is to investigate the impact of intrapartum events, such as rupture of membranes and vaginal examinations, on the infant gut microbiome in twins born vaginally. This prospective longitudinal cohort study included pregnant women with twin pregnancies beyond 36 weeks of gestation undergoing vaginal births. Stool samples were collected from newborns on days 4 and 28 for gut microbiome analysis using 16S rDNA sequencing. The infants were followed for at least 1 year. Forty babies were followed in this study. Gestational age at birth was 37.07 (36.75-37.57) weeks. Significant differences were observed between the first and second twins in the number of vaginal examinations (5.50 (4.00-7.25) vs. 1.00 (1.00-1.00), P < 0.001) and the rupture of membranes to birth time (524 (324-734.5) vs. 7.5 (4.5-9.0) minutes, P < 0.001). Bifidobacterium spp. were present in all samples, with differing relative abundance profiles on day 4 and day 28. On day 4, the first twins had over 50% Bifidobacterium spp., while second twins had less than 25%. By day 28, 75% of samples showed similar Bifidobacterium spp. profiles. Microbiome changes over time were more significant in second twins. At the species level, 20-40% of samples exhibited significant Bifidobacterium longum on day 4, higher in first twins compared to second twins.</p><p><strong>Conclusion: </strong> Differences in the microbiome and its evolution between first and second twins were noted within the first 4 and 28 days of life, influenced by membrane rupture duration and the number of vaginal examinations for the first twin.</p><p><strong>What is known: </strong>•Differences in the gut microbiome have been shown between infants born via cesarean and vaginal birth. •Colonization by maternal microbiota at birth is influenced by multiple perinatal factors.</p><p><strong>What is new: </strong>•Between twins born vaginally, the gut microbiome differs based on the duration of membrane rupture and the number of vaginal examinations. •This difference is noticeable on day 4 of life but ceases to be noticeable by day 28.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"511"},"PeriodicalIF":2.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12310857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.","authors":"Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, Sümeyra Oğuz, Metin Eser, Murat Hakkı Yarar, Sezin Canbek, Batın Ilgıt Sezgin, Akçahan Akalın, Gökçen Karamık, Enise Avci Durmuşalioğlu, Zeynep Ocak, Mutlu Karkucak, Nuray Öztürk, Funda Kökali, Şirin Sedef Baş, Sermin Özcan, Banu Nur, Ercan Mıhçı, Nursel H Elcioglu","doi":"10.1007/s00431-025-06347-7","DOIUrl":"https://doi.org/10.1007/s00431-025-06347-7","url":null,"abstract":"<p><p>Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant neurogenetic disorder caused by monallelic variants in KMT2A gene, characterized by neuromotor developmental delay, intellectual disability, microcephaly, seizures, behavioral disorders, dysmorphic facial features, hirsutism, and systemic anomalies. The KMT2A gene encodes a histone lysine methyltransferase crucial for the regulation of gene expression during early developmental stages. In this study, the clinical and molecular findings of 15 Turkish patients with WSS confirmed by whole exome sequencing are reported. Variant segregation was confirmed in all families. The ages of the patients were between 1.5 and 16 years. The majority of patients had neuromotor developmental delay, speech delay, and intellectual disability. The most frequently recognised dysmorphic facial features were thick eyebrows, long eyelashes, synophrys, hypertelorism, and broad nose. Other frequently observed clinical findings included short stature, congenital hypotonia, behavioral problems, genitourinary anomalies, and abnormal gait. Novel findings included focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. Fifteen different KMT2A variants were detected, including 8 novel (p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146 + 1_11146 + 6delinsA) variants. Additionally, one patient exhibited a dual molecular diagnosis with a de novo variant in CSNK2A1, associated with Okur-Chung neurodevelopmental syndrome.</p><p><strong>Conclusion: </strong>This study expands the clinical and molecular spectrum of WSS, highlighting novel variants and unique manifestations. It emphasizes the importance of molecular testing in accurate diagnosis and management. By characterizing phenotypic diversity and dual diagnosis, this work contributes valuable insights for advancing clinical care and guiding future research.</p><p><strong>What is known: </strong>• Wiedemann-Steiner syndrome (WSS) is a rare neurodevelopmental disorder caused by heterozygous KMT2A variants, characterized by developmental delay, intellectual disability, and distinctive facial features. • WSS exhibits marked clinical variability among affected individuals.</p><p><strong>What is new: </strong>• This study presents the largest Turkish WSS cohort to date, expands the phenotypic spectrum with novel findings such as focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. • This study presents the largest Turkish WSS cohort to date and expands the phenotypic spectrum with novel findings such as focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma, while also identifying eight novel WSS-associated variants, including p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146+1_11146+6delinsA.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"512"},"PeriodicalIF":2.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early echocardiographic predictors of death or early severe morbidity in extremely low gestational age neonates: a prospective study.","authors":"Elisa Mosca, Lionel Moulis, Illies Ouhab, Arthur Gaudaire, Renaud Mesnage, Laurene Gautheyrou, Gilles Cambonie, Arthur Gavotto","doi":"10.1007/s00431-025-06364-6","DOIUrl":"10.1007/s00431-025-06364-6","url":null,"abstract":"<p><strong>Purpose: </strong>To identify early echocardiographic markers predictive of death or early severe morbidity in extremely low gestational age neonates (ELGANs).</p><p><strong>Methods and results: </strong>Prospective observational single-centre study in level 3 neonatal intensive care unit, Montpellier University Hospital, France. Fifty live-born ELGANs (< 28 weeks' gestational age) admitted between January 2023 and January 2024, excluding major malformations and congenital heart disease. Neonatologist-performed echocardiography (NPE) at 12 ± 12 h (Day 1) and 72 ± 12 h (Day 3), assessing biventricular function, ductal flow, and systemic output.</p><p><strong>Primary outcome: </strong>death or early severe morbidity (severe intraventricular haemorrhage or bronchopulmonary haemorrhage). Associations between echocardiographic parameters and the composite outcome were assessed using ROC curves and 1:1 propensity score matching (sex, birthweight, gestational age). The composite outcome occurred in 21/50 infants (42%). On Day 1, lower tricuspid annular plane systolic excursion (TAPSE < 4.8 mm) and right ventricular velocity-time integral (RV VTI < 7.8 cm) were independently associated with the outcome (AUCs: 0.76 and 0.83, respectively). On Day 3, lower ductal flow velocities were significantly associated with adverse outcomes, suggesting persistent hemodynamically significant PDA. Other parameters (e.g., left ventricular function or systemic output) were not predictive after adjustment.</p><p><strong>Conclusion: </strong>Early echocardiographic indicators of right ventricular dysfunction (TAPSE, RV VTI) are associated with mortality or early severe morbidity in ELGANs. These markers may reflect myocardial immaturity and elevated pulmonary vascular resistance, underscoring the importance of heart-lung interaction in early neonatal care. Further multicentre studies are needed to confirm these findings and refine targeted hemodynamic management strategies.</p><p><strong>What is known: </strong>• Extremely low gestational age neonates (ELGANs) are at high risk of early death and severe morbidity due to cardiovascular immaturity • Neonatologist-performed echocardiography (NPE) is increasingly used for bedside hemodynamic assessment in preterm infants, but robust early prognostic markers are still lacking What is new: • This study identifies two early echocardiographic parameters-TAPSE < 4.8 mm and RV VTI < 7.8 cm on day 1-as significantly associated with death or early severe morbidity in ELGANs • These findings support the incorporation of early targeted echocardiographic assessment of right ventricular function into standard care for ELGANs.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 8","pages":"508"},"PeriodicalIF":2.6,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}